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Study identifies inherited genetic risk factors in childhood leukemia

A study from Karolinska Institutet shows that genetic testing can identify germline predisposition underlying childhood leukemia. The findings, published in Nature Communications, could help enable more personalized treatment and long-term follow-up.

Study identifies inherited genetic risk factors in childhood leukemia

A study by Karolinska Institutet has identified genetic factors that may predispose children to leukemia. The research, published in Nature Communications, analyzed 181 Swedish children recently diagnosed with acute leukemia using three methods: clinical assessment, whole-genome sequencing, and tumor tissue genetic analysis. Approximately 5% of the children had genetic variants suggesting a predisposition to leukemia.

Six of these children had variants specifically associated with leukemia, while three had rare variants in genes linked to solid tumors. The study found that germline predisposition to childhood leukemia is uncommon but can significantly impact treatment and follow-up. In 6 out of the 9 affected children, the increased cancer risk was not recognized before the diagnosis.

Once identified, 8 children were placed in specialized surveillance programs, and 4 had modifications to their treatment. The researchers emphasize the need for careful consideration of the benefits and potential resource implications of genetic testing, along with the importance of genetic counseling. While the proportion of children with a germline cancer predisposition in this study was slightly lower than previous estimates, larger studies are needed to better understand the role of genetic factors in childhood leukemia.

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